Experimental treatment could be best chance of survival for ‘bubble boy’
May 19, 2007
Sixteen-month-old Parker DesLauriers’ best chance for survival came yesterday in the form of a huge syringe containing a cloudy substance.
At a hospital in Milan, the contents of this syringe were slowly injected into a central line in his chest over the course of 15 minutes. All the while, Parker’s mother, Tracy, kept her eyes on the needle, wishing it to make her son better.
“Oh my gosh, I was so nervous. Until those cells were in his body, I couldn’t relax,” she said in a telephone interview from her hotel.
She and her husband, Kevin, have taken Parker to Italy for experimental gene therapy. The Ajax boy was born with a severely compromised immune system. He has a rare disease, ADA-deficient severe combined immunodeficiency, passed down from parents who each carry a copy of a defective gene.
The condition, known as “boy in the bubble” disease, is so rare that the Hospital for Sick Children has treated only 15 patients in the past two decades.
Without treatment, Parker would probably die before age 2. He has thrived until now because of an enzyme replacement therapy, but its effects would wear off in about a year.
All hope for the toddler rests on a gene therapy trial being conducted in Milan by Dr. Alessandro Aiuti. This treatment is not available in Canada. Since the family arrived in Milan two months ago, Parker has undergone a battery of tests.
A week ago he underwent a bone marrow harvest. Stem cells were removed and genetically altered. He also got a mild chemotherapy dose to prepare him for yesterday’s re-injection.
When Parker awoke yesterday, he knew a special day awaited – almost like a birthday. “We told him, `It’s your special cell day.’ We were singing cell day songs all day,” his mother laughed.
A happy toddler, Parker played with an empty box as a nurse gave him the vital injection from a large syringe. As the minutes ticked by, DesLauriers held Parker’s hand and found herself having a quiet conversation with the needle.
“I keep talking to those cells and telling them to do their job. My child’s life was in this syringe,” she said.
They won’t know for at least a month, when Parker goes for a bone aspiration, if the gene therapy is working. If all goes well, the family could be back in Canada by September.
“Now we just wait,” DesLauriers said.
So far this experimental gene therapy has been tried on just six children in the world, with limited but hopeful success.
Parker has spent much of his young life in isolation at the Hospital for Sick Children or at his home, which must be kept sterile and free of visitors to minimize germ exposure. In Italy, he must stay in hospital isolation for at least a month before joining his parents in a hotel, where he’ll be isolated indoors. He’s not supposed to be around other children for a year.
Aside from being the first Canadian to undergo such gene therapy, the Milan trip has seen other firsts for Parker.
He learned to stand for the first time without using furniture for support. He took his first steps. And he even went on a swing for the first time.
“We would wait until there was no one at the park and we’d bring our Lysol wipes and wipe it all down,” DesLauriers said. Parker smiled the whole time.
Italian fundraising has covered the gene therapy and the family’s accommodation while Air Canada paid for the flights. But the ordeal has been financially trying for the two teachers.
They have a blog documenting Parker’s journey that also provides information on making donations: www.scidada.blogspot.com.
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